ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.9006C>T (p.Pro3002=)

gnomAD frequency: 0.00067  dbSNP: rs184663595
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556712 SCV000656212 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-11-20 criteria provided, single submitter clinical testing
GeneDx RCV001572262 SCV001796870 likely benign not provided 2021-05-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952880 SCV004767964 likely benign COL12A1-related condition 2019-07-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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